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Current Concepts and Controversies in Neurodegeneration with Brain Iron Accumulation

Lookup NU author(s): Dr Michael Keogh, Professor Patrick Chinnery

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Abstract

Neurodegeneration with brain iron accumulation (NBIA) encompasses at least 7 genetically distinct disorders, and additional causative genes likely await identification. Recent advances have included the characterization of new genes associated with new subtypes of NBIA and also highlighted the phenotypic heterogeneity of this class of disorders. Herein, we summarize current concepts of NBIA pathogenesis and discuss important gaps in current knowledge, outlining key questions in the field. Semin Pediatr Neurol 19:51-56 Published by Elsevier Inc.

Publication metadata

Author(s): Keogh MJ, Chinnery PF

Publication type: Review

Publication status: Published

Journal: Seminars in Pediatric Neurology

Year: 2012

Volume: 19

Issue: 2

Pages: 51-56

Print publication date: 13/06/2012

ISSN (print): 1071-9091

ISSN (electronic): 1558-0776

Publisher: W B SAUNDERS CO-ELSEVIER INC

URL: http://dx.doi.org/10.1016/j.spen.2012.03.004

DOI: 10.1016/j.spen.2012.03.004

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